V31L (p.Val31Leu) variant of PMS2 (P54278)
V31L (p.Val31Leu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PMS2-related disorder; Hereditary nonpolyposis colorectal neoplasms; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V31L (p.Val31Leu) variant details
- p.Val31Leu
- rs786203763
- Ensembl rs786203763
- ClinGen CA013264
- ClinVar RCV000167210
- Uncertain significance
- PMS2-related disorder; Hereditary nonpolyposis colorectal neoplasms; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (PMS2-related disorder; Hereditary nonpolyposis colorectal neopla)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Lynch Syndrome. (PMID 20301390)